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Items: 1 to 20 of 1000

1.

rs1491580856 [Homo sapiens]
    Variant type:
    DEL
    Alleles:
    AC>- [Show Flanks]
    Chromosome:
    6:164496691 (GRCh38)
    6:164917724 (GRCh37)
    Canonical SPDI:
    NC_000006.12:164496690:AC:
    Gene:
    LOC107986667 (Varview)
    Functional Consequence:
    intron_variant
    Validated:
    by frequency,by alfa
    MAF:
    -=0./0 (ALFA)
    HGVS:
    2.

    rs1491488985 [Homo sapiens]
      Variant type:
      INS
      Alleles:
      ->C [Show Flanks]
      Chromosome:
      6:164436022 (GRCh38)
      6:164857056 (GRCh37)
      Canonical SPDI:
      NC_000006.12:164436022::C
      Gene:
      LOC107986667 (Varview)
      Functional Consequence:
      2KB_upstream_variant,upstream_transcript_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0./0 (ALFA)
      HGVS:
      3.

      rs1491456128 has merged into rs34433547 [Homo sapiens]
        Variant type:
        DELINS
        Alleles:
        TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
        Chromosome:
        6:164522628 (GRCh38)
        6:164943661 (GRCh37)
        Canonical SPDI:
        NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:164522616:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
        Gene:
        LOC107986667 (Varview)
        Functional Consequence:
        intron_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        TTTTTTTTTTTTTTTT=0./0 (ALFA)
        T=0.167026/44210 (TOPMED)
        T=0.176518/884 (1000Genomes)
        T=0.179612/666 (TWINSUK)
        T=0.187338/722 (ALSPAC)
        HGVS:
        4.

        rs1491349926 [Homo sapiens]
          Variant type:
          DEL
          Alleles:
          AT>- [Show Flanks]
          Chromosome:
          6:164438697 (GRCh38)
          6:164859730 (GRCh37)
          Canonical SPDI:
          NC_000006.12:164438696:AT:
          Gene:
          LOC107986667 (Varview)
          Functional Consequence:
          genic_upstream_transcript_variant,intron_variant
          Validated:
          by cluster
          HGVS:
          5.

          rs1491296454 [Homo sapiens]
            Variant type:
            DELINS
            Alleles:
            GC>-,GCGC [Show Flanks]
            Chromosome:
            6:164496702 (GRCh38)
            6:164917735 (GRCh37)
            Canonical SPDI:
            NC_000006.12:164496700:CGC:C,NC_000006.12:164496700:CGC:CGCGC
            Gene:
            LOC107986667 (Varview)
            Functional Consequence:
            intron_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            C=0.00049/8 (ALFA)
            -=0.00068/3 (Estonian)
            HGVS:
            6.

            rs1491233641 [Homo sapiens]
              Variant type:
              DELINS
              Alleles:
              ->CTCTCTATG [Show Flanks]
              Chromosome:
              6:164456913 (GRCh38)
              6:164877947 (GRCh37)
              Canonical SPDI:
              NC_000006.12:164456913:CTCTCTATG:CTCTCTATGCTCTCTATG
              Gene:
              LOC107986667 (Varview)
              Functional Consequence:
              genic_upstream_transcript_variant,intron_variant
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              CTCTCTATGCTCTCTATG=0.000253/3 (ALFA)
              CTCTCTATG=0.000057/15 (TOPMED)
              CTCTCTATG=0.000064/9 (GnomAD)
              HGVS:
              7.

              rs1490943451 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                C>- [Show Flanks]
                Chromosome:
                6:164525031 (GRCh38)
                6:164946064 (GRCh37)
                Canonical SPDI:
                NC_000006.12:164525030:CC:C
                Gene:
                LOC107986667 (Varview)
                Functional Consequence:
                non_coding_transcript_variant
                Validated:
                by frequency,by alfa
                MAF:
                CC=0./0 (ALFA)
                HGVS:
                8.

                rs1490899200 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  6:164457533 (GRCh38)
                  6:164878566 (GRCh37)
                  Canonical SPDI:
                  NC_000006.12:164457532:C:T
                  Gene:
                  LOC107986667 (Varview)
                  Functional Consequence:
                  genic_upstream_transcript_variant,intron_variant
                  Validated:
                  by frequency,by alfa
                  MAF:
                  T=0./0 (ALFA)
                  T=0.000004/1 (TOPMED)
                  HGVS:
                  9.

                  rs1490886814 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    C>A,T [Show Flanks]
                    Chromosome:
                    6:164523970 (GRCh38)
                    6:164945003 (GRCh37)
                    Canonical SPDI:
                    NC_000006.12:164523969:C:A,NC_000006.12:164523969:C:T
                    Gene:
                    LOC107986667 (Varview)
                    Functional Consequence:
                    intron_variant
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    T=0./0 (ALFA)
                    HGVS:
                    10.

                    rs1490826929 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      C>T [Show Flanks]
                      Chromosome:
                      6:164494920 (GRCh38)
                      6:164915953 (GRCh37)
                      Canonical SPDI:
                      NC_000006.12:164494919:C:T
                      Gene:
                      LOC107986667 (Varview)
                      Functional Consequence:
                      genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
                      Validated:
                      by frequency,by alfa
                      MAF:
                      T=0./0 (ALFA)
                      T=0.000008/2 (TOPMED)
                      HGVS:
                      11.

                      rs1490780246 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        6:164463703 (GRCh38)
                        6:164884736 (GRCh37)
                        Canonical SPDI:
                        NC_000006.12:164463702:T:C
                        Gene:
                        LOC107986667 (Varview)
                        Functional Consequence:
                        genic_upstream_transcript_variant,intron_variant
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0./0 (ALFA)
                        C=0.000008/2 (TOPMED)
                        C=0.000021/3 (GnomAD)
                        HGVS:
                        12.

                        rs1490764461 has merged into rs1369900039 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          A>-,AA [Show Flanks]
                          Chromosome:
                          6:164461437 (GRCh38)
                          6:164882470 (GRCh37)
                          Canonical SPDI:
                          NC_000006.12:164461436:AAAAAAA:AAAAAA,NC_000006.12:164461436:AAAAAAA:AAAAAAAA
                          Gene:
                          LOC107986667 (Varview)
                          Functional Consequence:
                          intron_variant,genic_upstream_transcript_variant
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          AAAAAAAA=0./0 (ALFA)
                          -=0.00004/1 (TOMMO)
                          -=0.00055/1 (Korea1K)
                          HGVS:
                          13.

                          rs1490726980 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            6:164478715 (GRCh38)
                            6:164899748 (GRCh37)
                            Canonical SPDI:
                            NC_000006.12:164478714:G:A
                            Gene:
                            LOC107986667 (Varview)
                            Functional Consequence:
                            genic_upstream_transcript_variant,intron_variant
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            A=0.000071/1 (ALFA)
                            A=0.000007/1 (GnomAD)
                            A=0.000019/5 (TOPMED)
                            A=0.000142/2 (TOMMO)
                            A=0.000342/1 (KOREAN)
                            A=0.000546/1 (Korea1K)
                            HGVS:
                            14.

                            rs1490685734 [Homo sapiens]
                              Variant type:
                              SNV:
                              Alleles:
                              G>C
                              Chromosome:
                              no mapping
                              Canonical SPDI:
                              15.

                              rs1490671654 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>A,G,T [Show Flanks]
                                Chromosome:
                                6:164462480 (GRCh38)
                                6:164883513 (GRCh37)
                                Canonical SPDI:
                                NC_000006.12:164462479:C:A,NC_000006.12:164462479:C:G,NC_000006.12:164462479:C:T
                                Gene:
                                LOC107986667 (Varview)
                                Functional Consequence:
                                genic_upstream_transcript_variant,intron_variant
                                Validated:
                                by frequency,by alfa
                                MAF:
                                T=0./0 (ALFA)
                                HGVS:
                                16.

                                rs1490555576 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  G>T [Show Flanks]
                                  Chromosome:
                                  6:164479181 (GRCh38)
                                  6:164900214 (GRCh37)
                                  Canonical SPDI:
                                  NC_000006.12:164479180:G:T
                                  Gene:
                                  LOC107986667 (Varview)
                                  Functional Consequence:
                                  genic_upstream_transcript_variant,intron_variant
                                  Validated:
                                  by frequency,by alfa
                                  MAF:
                                  T=0.000071/1 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  HGVS:
                                  17.

                                  rs1490516449 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    G>A [Show Flanks]
                                    Chromosome:
                                    6:164465532 (GRCh38)
                                    6:164886565 (GRCh37)
                                    Canonical SPDI:
                                    NC_000006.12:164465531:G:A
                                    Gene:
                                    LOC107986667 (Varview)
                                    Functional Consequence:
                                    genic_upstream_transcript_variant,intron_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    A=0./0 (ALFA)
                                    A=0.000004/1 (TOPMED)
                                    A=0.000007/1 (GnomAD)
                                    HGVS:
                                    18.

                                    rs1490443127 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      6:164513261 (GRCh38)
                                      6:164934294 (GRCh37)
                                      Canonical SPDI:
                                      NC_000006.12:164513260:C:T
                                      Gene:
                                      LOC107986667 (Varview)
                                      Functional Consequence:
                                      intron_variant
                                      Validated:
                                      by frequency,by alfa
                                      MAF:
                                      T=0.000224/1 (ALFA)
                                      T=0.000007/1 (GnomAD)
                                      HGVS:
                                      19.

                                      rs1490431942 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>A [Show Flanks]
                                        Chromosome:
                                        6:164501823 (GRCh38)
                                        6:164922856 (GRCh37)
                                        Canonical SPDI:
                                        NC_000006.12:164501822:G:A
                                        Gene:
                                        LOC107986667 (Varview)
                                        Functional Consequence:
                                        intron_variant
                                        Validated:
                                        by frequency,by alfa
                                        MAF:
                                        A=0./0 (ALFA)
                                        A=0.000011/3 (TOPMED)
                                        HGVS:
                                        20.

                                        rs1490321524 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          C>T [Show Flanks]
                                          Chromosome:
                                          6:164518163 (GRCh38)
                                          6:164939196 (GRCh37)
                                          Canonical SPDI:
                                          NC_000006.12:164518162:C:T
                                          Gene:
                                          LOC107986667 (Varview)
                                          Functional Consequence:
                                          intron_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          T=0./0 (ALFA)
                                          T=0.000008/2 (TOPMED)
                                          T=0.000035/1 (TOMMO)
                                          T=0.001027/3 (KOREAN)
                                          T=0.001092/2 (Korea1K)
                                          HGVS:

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